“Solving the puzzle of Huntington’s disease is not straightforward,” says Anne Young, MD, PhD. An expert in movement disorders and Huntington’s disease (HD) at Massachusetts General Hospital, Dr. Young explains that “even though we know the cause is a single mutant gene, the disease has many manifestations, so we have to bring scientists and clinicians together across disciplines to put all the pieces together.”

The cell lines that express the gene for Huntington’s disease are shown in green.

The fatal brain disease causes problems with movement, cognition, mood and behavior. Symptoms usually develop in patients between the ages of 30 to 50 (although age of onset can be as early as 2 or as late as 94) and worsen over time. A parent with HD has a 50 percent chance of passing the defective gene to his or her child. Since there is no cure, getting test results can feel like a death sentence, insurance may be denied and job security is at risk.

But researchers at Mass General are at the forefront of HD research. Dr. Young, for example, was on the original team that traveled to Zulia, Venuzuela in the 1980s to examine patients and collect skin and blood samples from a large family with HD. These samples were sent to James F. Gusella, PhD, now emeritus director of Mass General’s Center for Human Genetic Research, who, as a junior faculty member, was the first to discover a marker for the gene that causes HD. Subsequently, Dr. Gusella with geneticist Marcy MacDonald, PhD, and collaborators identified the actual gene mutation.

Collaborative Science Through MIND

In 2001, in an effort to accelerate these discoveries, Dr. Young launched the MassGeneral Institute for Neurodegenerative Diseases (MIND), a research collaborative that brings geneticists, clinicians, molecular biologists, imaging experts and others together in open laboratories. Investigators are encouraged to examine their research portfolios to see if any might indicate potential new therapies or ways to measure that potential.

Mass General researchers have developed new therapies for each of the neurodegenerative disorders and they are now in clinical trials.

Now, thanks to the collaborative effort MIND makes possible, Mass General researchers have developed new therapies for each of the neurodegenerative disorders and they are now in clinical trials. Together, they are moving closer to therapies that can stop the diseases’ progression.

For example, Mass General’s Ghazaleh Sadri-Vakili, PhD, focuses on the way HD progresses on a molecular level in her NeuroEpigenetics Lab.

“I study the effects of the mutant gene on other genes/proteins in an effort to understand what goes wrong,” Dr. Sadri-Vakili says. “Once we understand how it operates, we can develop therapies that repair it or restore it to normal.”

Ideas that Cross Disciplines

Dr. Sadri-Vakili says working at MIND provides her access to research and ideas that cross disciplines. Those opportunities, she says, help move research discoveries more quickly from the lab to patients.

“The cross talk keeps me connected to the progress of the research as it moves from observations under the microscope to therapies in patients,” she says. “I’m not isolated in a lab, I’m part of something bigger.”

“We are so grateful for the generosity of private donors,” Dr. Young says. “They have made all the difference to our investigators.”

Dr. Young says these connections only happen with the help of private philanthropy. Private foundations often require research to have a specific disease focus, which doesn’t encourage the kind of exchange of ideas and information that can illuminate other neurological diseases. On the federal level, getting funding for HD research is very challenging and can only be obtained after a long delay.

“We are so grateful for the generosity of private donors,” Dr. Young says. “They have made all the difference to our investigators.”

Philanthropy for Huntington’s Disease

The Dake Foundation, for example, supports Mass General researchers who pursue four coordinated, interdisciplinary research projects. Each complements and advances the work of the next, from the molecular level to a safe and effective way to deliver a therapy to patients.

Anne Young, MD, PhD

Based in Saratoga Springs, New York, the Dake Foundation has long focused on health-related causes. When the matriarch of the Dake family was diagnosed with Huntington’s disease years ago, the foundation and family members dove headlong into the cause of trying to find a cure for this disease.

Foundation board member Perrin Dake has been central to advancing the foundation’s role as a critically important funder of the most cutting-edge research in the field of Huntington’s disease. Mr. Dake has helped guide support to MIND for many years. He says Mass General’s multi-pronged approach exemplifies the researchers’ determination to find a cure.

Keeping a Promise

“We are very encouraged by the multidisciplinary work going on at Mass General,” Mr. Dake says. “There is an impressive range of scientists and clinicians working tirelessly to find a cure for Huntington’s disease.”

Dr. Sadri-Vakili tears up when she talks about the courage of families dealing with Huntington’s disease and the progress donations make possible.

“I made a promise to the HD patients that I would find a cure,” Dr. Sadri-Vakili, says. “The support from the Dake Foundation is the only way I can keep my promise.”

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